69093006: Rothmund-Thomson syndrome (disorder)

SNOMED CT Concept\Clinical finding (finding)\...

\Skin AND/OR mucosa finding (finding)\Skin finding\Disorder of skin (disorder)\...

\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome

\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome

\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\General finding of soft tissue\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\General finding of soft tissue\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome

\Integumentary system finding\Disorder of integument\Hereditary disorder of the integument (disorder)\Rothmund-Thomson syndrome
\Integumentary system finding\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\Integumentary system finding\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\Integumentary system finding\Skin finding\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome

\Disease\Genetic disease\Hereditary disease\Hereditary cancer-predisposing syndrome\Rothmund-Thomson syndrome
\Disease\Genetic disease\Hereditary disease\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Rothmund-Thomson syndrome
\Disease\Genetic disease\Hereditary disease\Developmental hereditary disorder\Rothmund-Thomson syndrome
\Disease\Disorder of foetus and/or newborn\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Rothmund-Thomson syndrome
\Disease\Disorder of foetus and/or newborn\Congenital disease\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome
\Disease\Degenerative disorder\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\Disease\Disorder of body system\Hereditary disorder by system (disorder)\Hereditary disorder of the integument (disorder)\Rothmund-Thomson syndrome
\Disease\Disorder of body system\Disorder of integument\Hereditary disorder of the integument (disorder)\Rothmund-Thomson syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder involving the integument of fetus OR newborn\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\Disease\Disorder of body system\Disorder of integument\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Degenerative skin disorder (disorder)\Atrophic condition of skin (disorder)\Poikiloderma (disorder)\Rothmund-Thomson syndrome
\Disease\Disorder of soft tissue\Disorder of skin and/or subcutaneous tissue (disorder)\Disorder of skin (disorder)\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome
\Disease\Developmental disorder (disorder)\Developmental hereditary disorder\Rothmund-Thomson syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital malformation syndrome\Multiple system malformation syndrome\Multiple malformation syndrome with senile-like appearance\Rothmund-Thomson syndrome
\Disease\Developmental disorder (disorder)\Congenital malformation\Congenital anomaly of integument\Congenital anomaly of skin (disorder)\Genodermatosis\Rothmund-Thomson syndrome

Status: current, Not sufficiently defined by necessary conditions definition status (core metadata concept). Date: 31-Jan 2002. Module: SNOMED CT core

Descriptions:

Expanded Value Set

Outbound Relationships	Type	Target	Active	Characteristic	Refinability	Group	Values
Rothmund-Thomson syndrome	Is a	Genodermatosis	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Is a	Multiple malformation syndrome with senile-like appearance	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Is a	Skin lesion	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rothmund-Thomson syndrome	Associated morphology	Poikiloderma	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rothmund-Thomson syndrome	Is a	Degenerative disorder	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Is a	Atrophic condition of skin (disorder)	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Associated morphology	Congenital malformation	false	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rothmund-Thomson syndrome	Associated morphology	anomalie congénitale	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rothmund-Thomson syndrome	Finding site	Skin structure	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	2
Rothmund-Thomson syndrome	Is a	Hereditary disorder of the integument (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Is a	Hereditary cancer-predisposing syndrome	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Occurrence	Congenital	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rothmund-Thomson syndrome	Associated morphology	anomalie du développement	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rothmund-Thomson syndrome	Finding site	Skin structure	false	Inferred relationship	Existential restriction modifier (core metadata concept)	3
Rothmund-Thomson syndrome	Is a	Poikiloderma (disorder)	true	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund-Thomson syndrome	Occurrence	Congenital	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rothmund-Thomson syndrome	Pathological process (attribute)	Pathological developmental process (qualifier value)	true	Inferred relationship	Existential restriction modifier (core metadata concept)	1
Rothmund-Thomson syndrome	Is a	Developmental hereditary disorder	true	Inferred relationship	Existential restriction modifier (core metadata concept)

Inbound Relationships	Type	Active	Source	Characteristic	Refinability	Group
Rothmund Thomson syndrome type 1 (disorder)	Is a	True	Rothmund-Thomson syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)
Rothmund Thomson syndrome type 2 (disorder)	Is a	True	Rothmund-Thomson syndrome	Inferred relationship	Existential restriction modifier (core metadata concept)

This concept is not in any reference sets

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Id	Description	Lang	Type	Status	Case?	Module
114761010	Rothmund-Thomson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
114762015	Poikiloderma congenitale syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
809000019	Rothmund-Thomson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233118010	Poikiloderma congenitale	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
114761010	Rothmund-Thomson syndrome	en	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
114762015	Poikiloderma congenitale syndrome	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
114762015	Poikiloderma congenitale syndrome	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
809000019	Rothmund-Thomson syndrome (disorder)	en	Fully specified name	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
809000019	Rothmund-Thomson syndrome (disorder)	en	Fully specified name	Active	Entire term case sensitive (core metadata concept)	SNOMED CT core
1233118010	Poikiloderma congenitale	en	Synonym (core metadata concept)	Active	Only initial character case insensitive (core metadata concept)	SNOMED CT core
1233118010	Poikiloderma congenitale	en	Synonym (core metadata concept)	Active	Entire term case insensitive (core metadata concept)	SNOMED CT core
3438811001000113	Rothmund-Thomson-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
874251000172116	syndrome de Rothmund-Thomson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
897691000172111	poïkilodermie de Rothmund-Thomson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
874251000172116	syndrome de Rothmund-Thomson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
897691000172111	poïkilodermie de Rothmund-Thomson	fr	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module
3438811001000113	Rothmund-Thomson-Syndrom	de	Synonym (core metadata concept)	Active	Entire term case sensitive (core metadata concept)	SNOMED CT Switzerland NRC maintained Module